home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0353
/
03530.txt
next >
Wrap
Text File
|
1994-01-17
|
11KB
|
241 lines
$Unique_ID{BRK03530}
$Pretitle{}
$Title{Blepharospasm, Benign Essential}
$Subject{Blepharospasm, Benign Essential BEB Blepharospasm Secondary
Blepharospasm Meige Syndrome Tardive Dyskinesia Wilson's Disease Tourette
Syndrome Tetany Tetanus}
$Volume{}
$Log{}
Copyright (C) 1984, 1985, 1990, 1992, 1993 National Organization for Rare
Disorders, Inc.
17:
Blepharospasm, Benign Essential
** IMPORTANT **
It is possible that the main title of the article (Benign Essential
Blepharospasm) is not the name you expected. Please check the SYNONYMS
listing to find the alternate name and disorder subdivisions covered by this
article.
Synonyms
BEB
Blepharospasm
Secondary Blepharospasm
Information on the following diseases can be found in the Related
Disorders section of this report:
Meige Syndrome
Tardive Dyskinesia
Wilson's Disease
Tourette Syndrome
Tetany
Tetanus
General Discussion
**REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Benign Essential Blepharospasm is a rare disorder in which the muscles of
the eyelids (orbiculares oculi) do not function properly. There are
intermittent and involuntary contractions or spasms of the muscles around the
eyes. Although the eyes themselves are unaffected, the patient may
eventually become functionally blind because of an inability to open the
eyelids. Benign Essential Blepharospasm is a form of dystonia, which is a
group of neuromuscular disorders characterized by muscle spasms.
Symptoms
Benign Essential Blepharospasm is characterized in the early stages by an
unusually frequent or forceful blinking of the eyes, as well as occasional
short episodes of involuntary eye closure. Over a period of years, these
episodes increase in frequency and duration. Ultimately, the eyes may be
closed 75 percent of the time.
Approximately two-thirds of patients also have a general lack of facial
muscle tone, and one-third may experience purposeless, rhythmic, quivering
movements (tremor). These episodes may be provoked by bright light,
emotional stress, motion (such as riding in a car), and reading.
Causes
The exact cause of Benign Essential Blepharospasm is not known. The disease
results from the dysfunction of the 7th cranial nerve, but the underlying
cause is not known. Benign Essential Blepharospasm is frequently but
incorrectly considered to be a problem of psychological origin.
There is some evidence suggesting that other types of dystonia might be
inherited as a genetic disorder. There is no evidence to date that suggests
that Benign Essential Blepharospasm is an inherited disorder.
Affected Population
Benign Essential Blepharospasm affects females more often than males in an
approximate ratio of 3:2. Most patients are older than 50 when diagnosed,
but cases have been diagnosed as early as 10 years of age. All different
types of blepharospasm together are estimated to affect approximately 150,000
individuals in the United States.
Related Disorders
Symptoms of the following disorders can be similar to those of Benign
Essential Blepharospasm. Comparisons may be useful for a differential
diagnosis:
Benign Essential Blepharospasm is a subtype of dystonia which is a group
of neurological disorders characterized by muscle spasms. (For more
information, choose "dystonia" as your search term in the Rare Disease
Database.)
Meige Syndrome is a rare neurological disorder that is characterized by
rapid eye blinking and spasms of the muscles around the eye (blepharospasm).
Major symptoms also include impairment of muscle tone and occasionally spasms
of the facial muscles. People in late middle age are most often affected.
Involuntary eyelid closure may result from spasms of the muscles around the
eyes. (For more information on this disorder, choose "Meige Syndrome" as
your search term in the Rare Disease Database).
Tardive Dyskinesia is a neurological disorder affecting the central
nervous system that is associated with the long-term use of neuroleptic
(antipsychotic) drugs. The major symptoms include involuntary and abnormal
facial movements such as grimacing and smacking of the lips. Involuntary
movements of the arms and legs may also occur. The symptoms of Tardive
dyskinesia can mimic certain other neurological disorders. The syndrome
usually occurs late in the course of drug therapy and may persist
indefinitely after the medication is withdrawn. (For more information on
this disorder, choose "Tardive Dyskinesia" as your search term in the Rare
Disease Database).
Wilson's Disease is a rare genetic disorder characterized by excessive
copper stored in various body tissues, particularly the liver, brain, and
corneas of the eyes. Major symptoms include liver dysfunction, lack of
coordination, tremor, spasticity, involuntary movements that may affect the
eyes. Behavioral changes and diminished intellectual capacity may also
occur. (For more information on this disorder, choose "Wilson" as your search
term in the Rare Disease Database).
Tourette Syndrome is a neurologic movement disorder that is characterized
by repetitive motor and vocal tics. The first symptoms are usually rapid eye
blinking or facial grimaces. Symptoms may also include involuntary
movements of the extremities, shoulders, face and the voluntary muscles, with
uncontrollable, inarticulate sounds and sometimes inappropriate words.
Tourette Syndrome is not a progressive or degenerative disorder; rather,
symptoms tend to be variable and follow a chronic waxing and waning course.
Symptoms usually begin before the age of 16. (For more information on this
disorder, choose "Tourette" as your search term in the Rare Disease
Database).
Tetany is a mineral imbalance characterized by spasms of the voluntary
muscles.
Tetanus is a bacterial infection characterized by spasms of the voluntary
muscles and especially the muscles of the jaw (lockjaw). The tetanus
bacteria are usually introduced through a wound.
Therapies: Standard
Benign Essential Blepharospasm may be treated with anticholinergic drugs and
with dopamine depleters such as tetrabenazine. The results of these drug
treatments are moderate and often temporary.
Two surgical approaches are in use. In a neurectomy, sections are taken
off the branches of the facial nerve leading to the orbicularis oculi.
Paralysis of the entire upper face may result, but the nerve branches tend to
regenerate after a period of months or years. In a procedure called a
protrator myectomy, the eyelid muscles themselves are destroyed. These
procedures are not generally helpful to many patients with blepharospasm.
The orphan drug Botulinum A toxin (trade name: Oculinum) has been
approved by the FDA as a treatment for Blepharospasm. The technique of
injecting small amounts of botulinum toxin into the orbicularis oculi
paralyzes these muscles for several months, after which time the procedure
must be repeated. Botulinum toxin injections have been very helpful for many
Blepharospasm patients, but some people do not respond well. The drug is
distributed by Allergran, Inc. For more information patients should ask
their physician to contact: Allergan Inc., 2525 Dupont Drive, Irvine, CA
92713-9534.
Therapies: Investigational
The orphan product Clostridium Botulinum Type F Neurotoxin, is being tested
for the treatment of Benign Essential Blepharospasm. The product is
manufactured by Porton Products Limited, 816 Connecticut Ave. NW, Washington,
DC, 20006.
A chemomyectomy, a procedure that destroys the muscles of the eyelids by
the injection of Doxorubicin (Adriamycin), has been tried on an experimental
basis. The drug is injected into the upper and lower eyelid of patients with
Benign Essential Blepharospasm. This study is being performed at the
University of Minnesota Medical School. Doxorubicin is a potent, toxic
chemotherapeutic agent used to treat advanced cancers and must be administered
with extreme caution. The small number of patients treated with these
injections did show improvement that was sustained for six months. More
study is needed to determine the long term safety and effectiveness of this
drug for treatment of Benign Essential Blepharospasm.
This disease entry is based upon medical information available through
January 1992. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Benign Essential Blepharospasm, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Benign Essential Blepharospasm Research Foundation, Inc.
P.O. Box 12468
Beaumont, TX 77706
(409) 832-0788
NIH/National Institute of Neurological Disorders and Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Dystonia Medical Research Foundation
One E. Wacker Dr., Suite 2900
Chicago, IL 60601-2001
(312) 755-0198
References
CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2135-2135.
OPHTHALMOLOGY: PRINCIPLES AND CONCEPTS, 7th Ed.; Frank W. Newell, Mosby
Year Book, 1991. Pp. 194.
FACIAL DYSTONIAS, ESSENTIAL BLEPHAROSPASM AND HEMIFACIAL SPASM, J.B.
Hold; Am Fam Physician (June 1991; 43(6)): Pp. 2113-2120.
CRANIAL DYSTONIA, BLEPHAROSPASM AND HEMIFACIAL SPASM: CLINICAL FEATURES
AND TREATMENT, INCLUDING THE USE OF BOTULINUM TOXIN, Kraft, S.P., et al.;
Can. Med. Assoc. J. (Nov. 1, 1988; 139 (9)): Pp. 837-44.
BOTULINUM TOXIN IN THE MANAGEMENT OF BLEPHAROSPASM, Dutton J.J., et al;
Arch. Neurol. (April, 1986; 43 (4)): Pp. 380-2.
CLINICAL DOXORUBICIN CHEMOMYECTOMY. AN EXPERIMENTAL TREATMENT FOR BENIGN
ESSENTIAL BLEPHAROSPASM AND HEMIFACIAL SPASM, J.D. Wirtschafter;
Ophthalmology (March 1991; 98(3)): Pp. 357-366.
A GENETIC STUDY OF IDIOPATHIC FOCAL DYSTONIAS, H.M. Waddy et al.; Annals
Neurology (March 1991; 29(3)): Pp. 320-324.